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Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders that are typically inherited. [2] The most common type is known as sickle cell anemia. [2] Sickle cell anemia results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2]
The Stem Cell Lineage Database (SCLD) was created by the University of Connecticut in order to have a more user friendly approach to retrieve and share data. The purpose of the Stem Cell Lineage Database is to consolidate the three key components into a database that is accessible and capable of storing information "about cell type gene ...
Hemoglobin variants can be discovered through examination, routine laboratory testing, or evaluation of patients with severe anemia. [3] In some countries, all newborns are tested for hemoglobinopathies, thalassemias, and HbS. Isoelectric focusing or high-performance liquid chromatography are used to identify structural abnormalities in hemoglobin.
The sickle cell trait provides a survival advantage against malaria fatality over people with normal hemoglobin in regions where malaria is endemic. The trait is known to cause significantly fewer deaths due to malaria, especially when Plasmodium falciparum is the causative organism.
Paroxysmal nocturnal hemoglobinuria (rare acquired clonal disorder of red blood cell surface proteins) Direct physical damage to RBCs Microangiopathic hemolytic anemia; Secondary to artificial heart valve(s) Aplastic anemia. Fanconi anemia; Diamond–Blackfan anemia (inherited pure red cell aplasia) Acquired pure red cell aplasia; Decreased ...
The underlying cause of sickle cell anemia is the synthesis of aberrant hemoglobin, which attaches to other aberrant hemoglobin molecules inside the red blood cell to undergo rigid deformation. [18] Sickle cell anemia symptoms usually appear around the age of six months. They can change over time and differ from person to person.
Sickle hemoglobin (HbS) is the most common variant of hemoglobin and arises due to an amino acid substitution in the beta-globin subunit at the sixth residue from glutamic acid to valine. There are different forms of sickle cell disease. HB SS which is the most common and severe form of sickle cell.
There is no red cell effect with Ho-2 compared to Hemoglobin S, which changes the shape of the cell to become sickled. The Hopkins-2 variant of hemoglobin is not involved in forming sickle cells. There is a lack of phenotypic expression of Ho-2 in terms of sickle cell, so a person with sickle cell and hemoglobin Hopkins-2 would be asymptomatic.
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